Disease: Muscular Dystrophy, Congenital, Megaconial Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555894289
rs1555894289
Entrez Id: 1120;1375;386593
Gene Symbol: CHKB;CPT1B;CHKB-CPT1B
CHKB;CPT1B;CHKB-CPT1B
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		C 0.700 GeneticVariation CLINVAR A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 21665002 2011